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Fetal screening

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https://www.readbyqxmd.com/read/28937404/genotyping-to-prevent-rh-disease-has-the-time-come
#1
C Ellen van der Schoot, Masja de Haas, Frederik Banch Clausen
PURPOSE OF REVIEW: In this review, we analyzed the current literature on noninvasive fetal RHD typing to answer the question whether the administration of RhIg to prevent D-alloimmunization during pregnancy can be safely guided by fetal RHD typing. RECENT FINDINGS: Recently the first centers that implemented large-scale nationwide fetal RHD typing in the second trimester for targeted RhIg administration have published their studies evaluating the diagnostic accuracy of their screening programs...
September 20, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28935263/predicting-preterm-birth-cervical-length-and-fetal-fibronectin
#2
REVIEW
Moeun Son, Emily S Miller
Spontaneous preterm birth remains the leading cause of neonatal morbidity and mortality worldwide, and accounts for a significant global health burden. Several obstetric strategies to screen for spontaneous preterm delivery, such as cervical length and fetal fibronectin measurement, have emerged. However, the effectiveness of these strategies relies on their ability to accurately predict those pregnancies at increased risk for spontaneous preterm birth (SPTB). Transvaginal cervical shortening is predictive of preterm birth and when coupled with appropriate preterm birth prevention strategies, has been associated with reductions in SPTB in asymptomatic women with a singleton gestation...
September 18, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28934815/-the-fetal-profile-more-than-just-nt
#3
Markus Hoopmann, Karl Oliver Kagan
The midsagittal view of the fetal profile is essential in first trimester screening at 11 + 0 to 13 + 6 weeks of gestation. None of the standard sections in prenatal medicine is as well defined and undergoes such a strong quality assurance program. These requirements were recently challenged by the introduction of cell-free DNA screening. The fetal profile view was previously only needed for the appropriate measurement of the fetal nuchal translucency thickness. In recent years, it became evident that there are many more anomalies or markers for fetal defects that can be seen in this section such as spina bifida, facial clefts or retrognathia...
September 21, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28930553/fetal-nucleic-acids-in-maternal-plasma-from-biology-to-clinical-translation
#4
Neha Bunkar, Arpit Bhargava, Koel Chaudhury, Radhey Shyam Sharma, Nirmal Kumar Lohiya, Pradyumna Kumar Mishra
Exposure to environmental contaminants during the critical window of pregnancy results in deregulation of highly coordinated genetic and epigenetic mechanisms involved in prenatal growth. Such disturbances significantly alter the fetal programming, and lead to various developmental disorders immediately, over the lifetime, or transgenerationally. During the process of placental development, fetal nucleic acids enter maternal plasma as a result of necrotic, apoptotic, and inflammatory mechanisms. These nucleic acids reflect normal or abnormal ongoing cellular changes during prenatal fetal development...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#5
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28928767/genome-wide-epigenetic-characterization-of-tissues-from-three-germ-layers-isolated-from-sheep-fetuses
#6
Emanuele Capra, Paola Toschi, Marcello Del Corvo, Barbara Lazzari, Pier A Scapolo, Pasqualino Loi, John L Williams, Alessandra Stella, Paolo Ajmone-Marsan
DNA methylation of regulatory and growth-related genes contributes to fetal programming which is important for maintaining the correct development of three germ layers of the embryo that develope into different tissues and organs, and which persists into adult life. In this study, a preliminary epigenetic screen was performed to define genomic regions that are involved in fetal epigenome remodeling. Embryonic ectodermic tissues (origin of nervous tissue), mesenchymal tissues (origin of connective and muscular tissues), and foregut endoderm tissues (origin of epithelial tissue), from day 28 sheep fetuses were collected and the distribution of methylated CpGs was analyzed using whole-genome bisulfite sequencing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28925570/first-trimester-screening-based-on-ultrasound-and-cfdna-vs-first-trimester-combined-screening-a-randomized-controlled-study
#7
Karl Oliver Kagan, Fabrina Sroka, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Sara Brucker, Diethelm Wallwiener, Markus Hoopmann
OBJECTIVE: Prospective randomized trial to compare the performance of first trimester combined screening (FTCS) with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. METHODS: Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation (fetal NT ≤3.5 mm and no fetal defects) were randomized into two groups. In the first group, the risk of aneuploidy was assessed using FTCS based on the most recent FMF UK algorithm...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28923018/effects-on-preventing-mother-to-child-transmission-of-syphilis-and-associated-adverse-pregnant-outcomes-a-longitudinal-study-from-2001-to-2015-in-shanghai-china
#8
Yang Li, Liping Zhu, Li Du, Lingxiao Qu, Weili Jiang, Biao Xu
BACKGROUND: Maternal syphilis is a health threat to both the pregnant women and the children. This study aimed to delineate the longitudinal trend of maternal syphilis and burden of associated adverse pregnant outcomes (APOs) in Shanghai from 2001 to 2015; and to evaluate the effects of preventing mother-to-child transmission (PMTCT) of syphilis in Shanghai with regard to service coverage and APOs averted. METHODS: PMTCT program of syphilis has been implemented since 2001...
September 18, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28921852/genome-wide-cell-free-fetal-dna-screening-spots-variations-standard-screening-doesn-t-diagnostic-testing-data-needed-to-validate-results-and-prove-accuracy
#9
(no author information available yet)
No abstract text is available yet for this article.
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28917582/preterm-pre-eclampsia-what-every-neonatologist-should-know
#10
REVIEW
Lisa Story, Lucy C Chappell
Although pre-eclampsia affects 5-10% of pregnancies globally and is responsible for substantial maternal and perinatal morbidity and mortality, currently there is no cure other than delivery of the baby. Predictive screening tests based on clinical risk factors, with or without the addition of biomarkers and imaging, have been developed, but adoption into clinical practice is limited by suboptimal test performance. Once established pre-eclampsia is diagnosed, a woman is usually managed expectantly prior to 37weeks' gestation to reduce perinatal morbidity and mortality associated with iatrogenic prematurity until maternal or fetal triggers for delivery mean that risks of pregnancy prolongation outweigh the benefits...
September 13, 2017: Early Human Development
https://www.readbyqxmd.com/read/28915376/psychometric-properties-of-the-postpartum-bonding-questionnaire-and-correlates-of-mother-infant-bonding-impairment-in-italian-new-mothers
#11
Alessandra Busonera, Stefania Cataudella, Jessica Lampis, Marco Tommasi, Giulio Cesare Zavattini
OBJECTIVE: impaired maternal bonding is a risk factor for problems with infant well-being and development. The investigation of perinatal variables related to disorders of the mother-infant relationship as well as the administration of reliable and valid screening tools to new mothers in the postpartum can help identify early signs of a disturbed mother-child relationship. The Postpartum Bonding Questionnaire (PBQ) has been shown to be a valid screening instrument, but its dimensional structure is still controversial...
September 1, 2017: Midwifery
https://www.readbyqxmd.com/read/28915119/cytogenetic-analysis-in-fetuses-with-late-onset-abnormal-sonographic-findings
#12
Ron Bardin, Eran Hadar, Lylach Haizler-Cohen, Rinat Gabbay-Benziv, Israel Meizner, Sarit Kahana, Josepha Yeshaya, Shiri Yacobson, Lital Cohen-Vig, Ifaat Agmon-Fishman, Lina Basel-Vanagaite, Idit Maya
OBJECTIVE: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. DESIGN: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. RESULTS: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28913147/summary-of-2185-prenatal-invasive-procedures-in-a-single-center-a-retrospective-analysis
#13
Hüseyin Çağlayan Özcan, Mete Gürol Uğur, Seyhun Sucu, Aynur Mustafa, Neslihan Bayramoğlu Tepe, Özcan Balat
OBJECTIVE: To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital. MATERIALS AND METHODS: This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation...
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28902389/women-s-experiences-of-continuous-fetal-monitoring-a-mixed-methods-systematic-review
#14
Alexandra Crawford, Dexter Hayes, Edward D Johnstone, Alexander E P Heazell
INTRODUCTION: Antepartum stillbirth is often preceded by detectable signs of fetal compromise, including changes in fetal heart rate and movement. It is hypothesised that continuous fetal monitoring could detect these signs more accurately and objectively than current forms of fetal monitoring and allow for timely intervention. This systematic review aimed to explore available evidence on women's experiences of continuous fetal monitoring to investigate its acceptability prior to clinical implementation and to inform clinical studies...
September 13, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28894775/pregnancy-screening-before-diagnostic-radiography-in-emergency-department-an-educational-review
#15
REVIEW
Abdelrahman Ibrahim Abushouk, Morteza Sanei Taheri, Parichehr Pooransari, Sahar Mirbaha, Alaleh Rouhipour, Alireza Baratloo
In modern medical practice, there is an increasing dependence on imaging techniques in most medical specialties. Radiation exposure during pregnancy may have serious teratogenic effects to the fetus. Therefore, checking the pregnancy status before imaging women of child bearing age can protect against these effects. Lack of international regulations and standard protocols exposes the patient to unexpected fetal radiation effects and the health professionals to medicolegal suits. Recently, the American Academy of Radiology and the European community of Medical Ionizing Radiation Protection released national guidelines regarding pregnancy screening before imaging potentially pregnant females...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/28893946/a-radial-axis-defined-by-semaphorin-to-neuropilin-signaling-controls-pancreatic-islet-morphogenesis
#16
Philip T Pauerstein, Krissie Tellez, Kirk B Willmarth, Keon Min Park, Brian Hsueh, H Efsun Arda, Xueying Gu, Haig Aghajanian, Karl Deisseroth, Jonathan A Epstein, Seung K Kim
The islets of Langerhans are endocrine organs characteristically dispersed throughout the pancreas. During development, endocrine progenitors delaminate, migrate radially, and cluster to form islets. Despite the distinctive distribution of islets, spatially localized signals that control islet morphogenesis have not been discovered. Here we identify a radial signaling axis that instructs developing islet cells to disperse throughout the pancreas. A screen of pancreatic extracellular signals identified factors that stimulated islet cell development...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28892146/murine-retrovirally-transduced-bone-marrow-engraftment-models-of-mll-fusion-driven-acute-myelogenous-leukemias-aml
#17
Matthew C Stubbs, Andrei V Krivtsov
MLL-rearranged leukemia represents approximately 5% to 10% of adult acute myelogenous leukemia (AML) and nearly half of all infant/pediatric acute leukemia cases. These leukemias have a poor prognosis, and there are no approved therapeutic options. The rearrangement in the MLL gene leads to aberrant expression of MLL-fusion proteins. These are transforming in murine bone marrow and, in particular, on stem cells and myeloid progenitors derived from bone marrow or fetal liver. The commonality of the MLL fusions is the in-frame fusion of 8 to 11 N-terminal exons of MLL1 (KMT2a) with the C-terminus of a partner fusion gene...
September 11, 2017: Current Protocols in Pharmacology
https://www.readbyqxmd.com/read/28891254/fetal-isovolumetric-time-intervals-as-a-marker-of-abnormal-cardiac-function-in-fetal-anemia-from-homozygous-alpha-thalassemia-1-disease
#18
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28889776/risk-of-spontaneous-preterm-birth-in-ivf-conceived-twin-pregnancies
#19
Gabriele Saccone, Fabrizio Zullo, Amanda Roman, Andrew Ward, Giuseppe Maruotti, Pasquale Martinelli, Vincenzo Berghella
OBJECTIVE: To compare the mean transvaginal ultrasound (TVU) cervical length (CL) at midtrimester in screening for preterm birth in in vitro (IVF)-conceived twin pregnancies versus spontaneously-conceived twin pregnancies. METHODS: This was a retrospective cohort study. Potential study subjects were identified at the time of a routine second trimester fetal ultrasound exam at 18 0/7 - 23 6/7-week gestation. All women with twin diamniotic pregnancies screened with a singlet TVU CL for this trial were included...
September 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28887224/the-zebrafish-as-a-promising-tool-for-modeling-human-brain-disorders-a-review-based-upon-an-ibns-symposium
#20
REVIEW
Soaleha Shams, Jason Rihel, Jose G Ortiz, Robert Gerlai
The zebrafish represents an excellent compromise between system complexity and practical simplicity, features that make it useful for modeling and mechanistic analysis of complex brain disorders. Also promising are screens for psychoactive drugs with effects on larval and adult zebrafish behavior. This review, based upon a recent symposium held at the 2016 IBNS Congress, provides different perspectives on how the zebrafish may be utilized to advance research into human central nervous system disorders. It starts with a discussion on an important bottleneck in zebrafish research, measuring the behavior of this species (specifically shoaling), and continues with examples on research on autism spectrum disorder in larval zebrafish, on screening natural products for compounds with psychoactive properties in adult zebrafish, and on the development of a zebrafish model of fetal alcohol spectrum disorders...
September 5, 2017: Neuroscience and Biobehavioral Reviews
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